SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610920A>C , CM000676.2:g.88610920A>C | GRCh38 |
| NC_000014.8:g.89077264A>C , CM000676.1:g.89077264A>C | GRCh37 |
| NC_000014.7:g.88147017A>C | NCBI36 |
| NG_050601.1:g.53012A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2184A>C MANE Select | ENSP00000251038.5:p.Lys728Asn | |
| ENST00000649731.1:c.*1392A>C | ENSP00000497757.1:n.*1392A>C | |
| ENST00000251038.9:c.2184A>C | ENSP00000251038.5:p.Lys728Asn | |
| ENST00000302216.12:c.1713A>C | ENSP00000307025.8:p.Lys571Asn | |
| ENST00000318308.10:c.894A>C | ENSP00000327176.6:p.Lys298Asn | |
| ENST00000336693.8:c.1689A>C | ENSP00000338002.4:p.Lys563Asn | |
| ENST00000393514.9:c.2109A>C | ENSP00000377150.5:p.Lys703Asn | |
| ENST00000406216.7:c.822A>C | ENSP00000384682.3:p.Lys274Asn | |
| ENST00000554020.5:n.1027A>C | ||
| ENST00000555755.5:c.2166A>C | ENSP00000452475.1:p.Lys722Asn | |
| ENST00000555792.1:c.429A>C | ENSP00000450823.1:p.Lys143Asn | |
| ENST00000555851.6:n.343A>C | ||
| ENST00000555900.5:c.1290A>C | ENSP00000451530.1:p.Lys430Asn | |
| ENST00000556000.5:c.1928A>C | ||
| ENST00000556945.5:c.1791A>C | ENSP00000450474.1:p.Lys597Asn | |
| ENST00000557491.1:n.1469A>C | ||
| ENST00000557607.5:c.1236A>C | ENSP00000452370.1:p.Lys412Asn | |
| NM_001160103.1:c.2181A>C | NP_001153575.1:p.Lys727Asn | |
| NM_001160104.1:c.2166A>C | NP_001153576.1:p.Lys722Asn | |
| NM_024824.4:c.2184A>C | NP_079100.2:p.Lys728Asn | |
| NM_207660.3:c.1713A>C | NP_997543.1:p.Lys571Asn | |
| NM_207661.2:c.1689A>C | NP_997544.1:p.Lys563Asn | |
| NM_207662.3:c.894A>C | NP_997545.2:p.Lys298Asn | |
| XM_005268067.3:c.2169A>C | XP_005268124.1:p.Lys723Asn | |
| XM_005268068.3:c.2109A>C | XP_005268125.1:p.Lys703Asn | |
| XM_005268069.3:c.1791A>C | XP_005268126.1:p.Lys597Asn | |
| XM_005268070.3:c.1788A>C | XP_005268127.1:p.Lys596Asn | |
| XM_005268071.3:c.1716A>C | XP_005268128.1:p.Lys572Asn | |
| XM_005268073.3:c.1290A>C | XP_005268130.1:p.Lys430Asn | |
| XM_006720257.2:c.1215A>C | XP_006720320.1:p.Lys405Asn | |
| XM_011537160.1:c.2082A>C | XP_011535462.1:p.Lys694Asn | |
| XM_011537161.1:c.2028A>C | XP_011535463.1:p.Lys676Asn | |
| NM_001326295.1:c.1791A>C | NP_001313224.1:p.Lys597Asn | |
| NM_001326296.1:c.2106A>C | NP_001313225.1:p.Lys702Asn | |
| NM_001326297.1:c.2082A>C | NP_001313226.1:p.Lys694Asn | |
| NM_001326298.1:c.1716A>C | NP_001313227.1:p.Lys572Asn | |
| NM_001326299.1:c.2091A>C | NP_001313228.1:p.Lys697Asn | |
| NM_001326300.1:c.1719A>C | NP_001313229.1:p.Lys573Asn | |
| NM_001326301.1:c.2007A>C | NP_001313230.1:p.Lys669Asn | |
| NM_001326302.1:c.1716A>C | NP_001313231.1:p.Lys572Asn | |
| NM_001326303.1:c.1611A>C | NP_001313232.1:p.Lys537Asn | |
| NM_001326304.1:c.1323A>C | NP_001313233.1:p.Lys441Asn | |
| NM_001326305.1:c.1644A>C | NP_001313234.1:p.Lys548Asn | |
| NM_001326306.1:c.1557A>C | NP_001313235.1:p.Lys519Asn | |
| NM_001326307.1:c.2109A>C | NP_001313236.1:p.Lys703Asn | |
| NM_001326308.1:c.1326A>C | NP_001313237.1:p.Lys442Asn | |
| NM_001326309.1:c.1251A>C | NP_001313238.1:p.Lys417Asn | |
| NM_001326310.1:c.2169A>C | NP_001313239.1:p.Lys723Asn | |
| NM_001326311.1:c.1248A>C | NP_001313240.1:p.Lys416Asn | |
| NM_001326312.1:c.2094A>C | NP_001313241.1:p.Lys698Asn | |
| NM_001326313.1:c.1560A>C | NP_001313242.1:p.Lys520Asn | |
| NM_001326314.1:c.1641A>C | NP_001313243.1:p.Lys547Asn | |
| NM_001326315.1:c.2079A>C | NP_001313244.1:p.Lys693Asn | |
| NM_001326316.1:c.2079A>C | NP_001313245.1:p.Lys693Asn | |
| NR_136936.1:n.2249A>C | ||
| XM_005268070.5:c.1788A>C | XP_005268127.1:p.Lys596Asn | |
| XM_005268073.4:c.1290A>C | XP_005268130.1:p.Lys430Asn | |
| XM_006720257.3:c.1215A>C | XP_006720320.1:p.Lys405Asn | |
| XM_011537161.3:c.2028A>C | XP_011535463.1:p.Lys676Asn | |
| XM_024449713.1:c.1212A>C | XP_024305481.1:p.Lys404Asn | |
| NM_024824.5:c.2184A>C MANE Select | NP_079100.2:p.Lys728Asn | |
| NM_001160103.2:c.2181A>C | NP_001153575.1:p.Lys727Asn | |
| NM_001160104.2:c.2166A>C | NP_001153576.1:p.Lys722Asn | |
| NM_001326295.2:c.1791A>C | NP_001313224.1:p.Lys597Asn | |
| NM_001326296.2:c.2106A>C | NP_001313225.1:p.Lys702Asn | |
| NM_001326297.2:c.2082A>C | NP_001313226.1:p.Lys694Asn | |
| NM_001326298.2:c.1716A>C | NP_001313227.1:p.Lys572Asn | |
| NM_001326299.2:c.2091A>C | NP_001313228.1:p.Lys697Asn | |
| NM_001326300.2:c.1719A>C | NP_001313229.1:p.Lys573Asn | |
| NM_001326301.2:c.2007A>C | NP_001313230.1:p.Lys669Asn | |
| NM_001326302.2:c.1716A>C | NP_001313231.1:p.Lys572Asn | |
| NM_001326303.2:c.1611A>C | NP_001313232.1:p.Lys537Asn | |
| NM_001326304.2:c.1323A>C | NP_001313233.1:p.Lys441Asn | |
| NM_001326305.2:c.1644A>C | NP_001313234.1:p.Lys548Asn | |
| NM_001326306.2:c.1557A>C | NP_001313235.1:p.Lys519Asn | |
| NM_001326307.2:c.2109A>C | NP_001313236.1:p.Lys703Asn | |
| NM_001326308.2:c.1326A>C | NP_001313237.1:p.Lys442Asn | |
| NM_001326309.2:c.1251A>C | NP_001313238.1:p.Lys417Asn | |
| NM_001326310.2:c.2169A>C | NP_001313239.1:p.Lys723Asn | |
| NM_001326311.2:c.1248A>C | NP_001313240.1:p.Lys416Asn | |
| NM_001326312.2:c.2094A>C | NP_001313241.1:p.Lys698Asn | |
| NM_001326313.2:c.1560A>C | NP_001313242.1:p.Lys520Asn | |
| NM_001326314.2:c.1641A>C | NP_001313243.1:p.Lys547Asn | |
| NM_001326315.2:c.2079A>C | NP_001313244.1:p.Lys693Asn | |
| NM_207660.4:c.1713A>C | NP_997543.1:p.Lys571Asn | |
| NM_207662.4:c.894A>C | NP_997545.2:p.Lys298Asn | |
| NR_136936.2:n.2121A>C | ||
| NM_001326316.2:c.2079A>C | NP_001313245.1:p.Lys693Asn | |
| NM_207661.3:c.1689A>C | NP_997544.1:p.Lys563Asn |